Variant information

Systematic Name
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 Female Rett syndrome-classical 4853 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 View details